SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS60617604 KRT5 Health Risk Likely pathogenic —
RS60618533 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Hypertrophic cardiomyopathy
RS606231119 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS606231120 GRXCR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
RS606231121 ZFP57 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS606231122 ZFP57 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS606231123 ZFP57 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS606231125 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS606231126 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS606231127 STRA6 Health Risk Likely pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS606231128 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome
RS606231129 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS606231130 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS606231131 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS606231132 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS606231133 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS606231134 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS606231135 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS606231136 NSMF Health Risk risk factor Hypogonadotropic hypogonadism 9 with or without anosmia, Hypogonadotropic hypogonadism 9 with or without anosmia
RS606231137 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS606231138 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS606231139 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS606231141 SERPING1 Health Risk Pathogenic Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
RS606231146 LMBR1;ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS606231147 ZRS Health Risk Pathogenic Tibia, hypoplasia or aplasia of
RS606231148 LMBR1;ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS606231149 LMBR1;ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Triphalangeal thumb
RS606231150 LMBR1;ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Triphalangeal thumb
RS606231151 LMBR1;ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Triphalangeal thumb
RS606231152 LMBR1;ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Triphalangeal thumb
RS606231154 SPINT2 Health Risk Pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS606231155 SPINT2 Health Risk Pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS606231157 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS606231158 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS606231159 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS606231160 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS606231161 LTBP4 Health Risk Pathogenic/Likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS606231162 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS606231163 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS606231164 DNAI1 Health Risk Pathogenic Kartagener syndrome, Kartagener syndrome
RS606231165 DNAI1 Health Risk Pathogenic Kartagener syndrome, Kartagener syndrome
RS606231166 ITM2B Health Risk Pathogenic ADan amyloidosis, ADan amyloidosis
RS606231167 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Laurence-Moon syndrome
RS606231168 AGPAT2 Health Risk Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1, Thyroid cancer
RS606231169 PTEN Health Risk Likely pathogenic Prostate cancer, somatic
RS606231170 PTEN Health Risk Pathogenic Prostate cancer, somatic
RS606231172 SLC16A1 Health Risk Pathogenic Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
RS606231174 RUNX2 Health Risk Pathogenic Cleidocranial dysplasia 1, forme fruste
RS606231178 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS606231179 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS606231180 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, Retinal dystrophy
RS606231181 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, Retinal dystrophy
RS606231182 ZDHHC9 Health Risk Pathogenic Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
RS606231183 ZDHHC9 Health Risk Pathogenic Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
RS606231184 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS606231185 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS606231186 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS606231187 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS606231188 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS606231189 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases
RS606231190 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS606231191 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS606231193 PQBP1 Health Risk Pathogenic Renpenning syndrome, PQBP1-related disorder
RS606231196 PQBP1 Health Risk Likely pathogenic Renpenning syndrome, Renpenning syndrome
RS606231197 PQBP1 Health Risk Pathogenic Renpenning syndrome, Renpenning syndrome
RS606231202 KRAS Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS606231203 EPCAM Health Risk Pathogenic Congenital diarrhea 5 with tufting enteropathy, Gastric cancer
RS606231204 EPCAM Health Risk Pathogenic Congenital diarrhea 5 with tufting enteropathy, EPCAM-related disorder
RS606231205 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS606231206 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS606231207 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS606231208 NR5A1 Health Risk Pathogenic Premature ovarian failure 7, Premature ovarian failure 7
RS606231209 PDGFRA Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS606231210 PLG Health Risk Pathogenic Plasminogen deficiency, type I
RS606231212 NEFH Health Risk risk factor Amyotrophic lateral sclerosis, susceptibility to
RS606231214 KRT6A Health Risk Pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS606231220 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS606231221 GRN Health Risk Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS606231222 H6PD Health Risk Pathogenic Cortisone reductase deficiency 1, Cortisone reductase deficiency 1
RS606231223 FGB Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS606231224 FGB Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS606231225 FGA Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS606231226 DPP6 Health Risk Pathogenic; risk factor Ventricular fibrillation, paroxysmal familial
RS606231228 BRAF Health Risk Pathogenic Noonan syndrome 7, RASopathy
RS606231229 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS606231230 ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS606231231 ZRS Health Risk Pathogenic Polydactyly of a triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS606231233 KHDC3L Health Risk Pathogenic Hydatidiform mole, recurrent
RS606231234 KHDC3L Health Risk Pathogenic Hydatidiform mole, recurrent
RS606231236 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia
RS606231237 DHTKD1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q, Charcot-Marie-Tooth disease type 2A2
RS606231238 ODAD1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 20, Primary ciliary dyskinesia
RS606231239 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia 20, Primary ciliary dyskinesia
RS606231240 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia 20, Adams-Oliver syndrome 5
RS606231241 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS606231242 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS606231243 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS606231246 CORO1A Health Risk Pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS606231248 MRC1 Health Risk Uncertain risk allele; risk factor Susceptibility to leprosy and multibacillary leprosy, Leprosy
RS606231249 PNPLA6 Health Risk Pathogenic Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39
« Prev 1 ... 3039 3040 3041 3042 3043 3044 3045 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →